Product Details

SNP ID

rs145752810

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:1496334 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTGACGTACCTGGTTCAGGTTGTC[A/G]CTGCAGGAGACCTTGCTGTCCCCGA

Phenotype

MIM: 607875 MIM: 606538

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

INPP5K PubMed Links

Gene Details

Gene

INPP5K

Gene Name

inositol polyphosphate-5-phosphatase K

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135642.1	1339	Silent Mutation	AGC,AGT	S314S	NP_001129114.1
NM_016532.3	1339	Silent Mutation	AGC,AGT	S390S	NP_057616.2
NM_130766.2	1339	Silent Mutation	AGC,AGT	S314S	NP_570122.1
XM_005256683.2	1339	Silent Mutation	AGC,AGT	S314S	XP_005256740.1
XM_005256685.1	1339	Silent Mutation	AGC,AGT	S298S	XP_005256742.1
XM_005256686.1	1339	Silent Mutation	AGC,AGT	S298S	XP_005256743.1
XM_011523934.1	1339	Silent Mutation	AGC,AGT	S314S	XP_011522236.1
XM_011523936.2	1339	Silent Mutation	AGC,AGT	S255S	XP_011522238.1
XM_017024755.1	1339	Silent Mutation	AGC,AGT	S314S	XP_016880244.1
XM_017024756.1	1339	Silent Mutation	AGC,AGT	S314S	XP_016880245.1
XM_017024757.1	1339	Silent Mutation	AGC,AGT	S298S	XP_016880246.1
XM_017024758.1	1339	Silent Mutation	AGC,AGT	S255S	XP_016880247.1
XM_017024759.1	1339	Silent Mutation	AGC,AGT	S255S	XP_016880248.1

Gene

MYO1C

Gene Name

myosin IC

There are no transcripts associated with this gene.

View Full Product Details